Gene Symbol | CTSD |
Entrez Gene ID | 1509 |
Full Name | cathepsin D |
Synonyms | CLN10,CPSD,HEL-S-130P |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]. |
Disorder MIM: | |
Disorder Html: | Ceroid lipofuscinosis, neuronal, 10, 610127 (3) |